Acta Neuropathologica

, Volume 72, Issue 2, pp 178–188

Farber's disease in two siblings, sural nerve and subcutaneous biopsies by light and electron microscopy

  • J. F. Pellissier
  • M. Berard-Badier
  • N. Pinsard
Original Works

DOI: 10.1007/BF00685981

Cite this article as:
Pellissier, J.F., Berard-Badier, M. & Pinsard, N. Acta Neuropathol (1986) 72: 178. doi:10.1007/BF00685981

Summary

Two siblings born from consanguineous tunisian parents are reported. They showed a severe form of Farber's disease with prominent involvement of the central and peripheral nervous system: low conduction velocity was noticed in both children. Macular cherry red spots were observed in one of them. The diagnosis for the girl investigated was confirmed by evidence of ceramidase deficiency in cultured fibroblasts. Here we report the pathological findings in the subcutaneous nodules using light and electron microscopy (one case), and in sural nerves using morphometric studies (both cases). Varying morphological aspects of intracellular inclusions, depending on the tissues involved, are described and discussed. A review of all cases reported since Farber's first paper in 1952 is given.

Key words

Farber's disease Peripheral nerve Subcutaneous nodules Electron microscopy Ceramidase deficiency 

Copyright information

© Springer-Verlag 1986

Authors and Affiliations

  • J. F. Pellissier
    • 1
  • M. Berard-Badier
    • 1
  • N. Pinsard
    • 2
  1. 1.Department de NeuropathologieFaculté de MédecineMarseille Cedex 5France
  2. 2.Service de Neurologie pédiatriqueHôpital d'enfants CHU TimoneMarseille Cedex 5France